G13V (p.Gly13Val) variant of ALDH2 (P05091)
G13V (p.Gly13Val) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G13V (p.Gly13Val) variant details
- p.Gly13Val
- gnomAD 12-111767020-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.13
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available